Aliases for ATAD1 Gene

Aliases for ATAD1 Gene

  • ATPase Family AAA Domain Containing 1 2 3 5
  • ATPase Family AAA Domain-Containing Protein 1 3 4
  • Thorase 2 4
  • Msp1 2 3
  • EC 3.6.1.3 4
  • FLJ14600 2
  • THORASE 3
  • FNP001 3
  • AFDC1 3
  • HKPX4 3
  • ATAD1 5

External Ids for ATAD1 Gene

Previous GeneCards Identifiers for ATAD1 Gene

  • GC10M089178
  • GC10M089502
  • GC10M083148

Summaries for ATAD1 Gene

GeneCards Summary for ATAD1 Gene

ATAD1 (ATPase Family AAA Domain Containing 1) is a Protein Coding gene. Diseases associated with ATAD1 include Hyperekplexia 4 and Hyperekplexia. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule-severing ATPase activity. An important paralog of this gene is VPS4B.

UniProtKB/Swiss-Prot Summary for ATAD1 Gene

  • ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).

Additional gene information for ATAD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATAD1 Gene

Genomics for ATAD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATAD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATAD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATAD1

Top Transcription factor binding sites by QIAGEN in the ATAD1 gene promoter:
  • aMEF-2
  • ATF
  • C/EBPalpha
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-1
  • HNF-1A
  • MEF-2A
  • MyoD

Genomic Locations for ATAD1 Gene

Genomic Locations for ATAD1 Gene
chr10:87,751,512-87,841,359
(GRCh38/hg38)
Size:
89,848 bases
Orientation:
Minus strand
chr10:89,511,269-89,601,100
(GRCh37/hg19)
Size:
89,832 bases
Orientation:
Minus strand

Genomic View for ATAD1 Gene

Genes around ATAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATAD1 Gene

Proteins for ATAD1 Gene

  • Protein details for ATAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBU5-ATAD1_HUMAN
    Recommended name:
    ATPase family AAA domain-containing protein 1
    Protein Accession:
    Q8NBU5
    Secondary Accessions:
    • D3DR26
    • Q6DKG1
    • Q6P4B9
    • Q8N3G1
    • Q8WYR9
    • Q969Y3

    Protein attributes for ATAD1 Gene

    Size:
    361 amino acids
    Molecular mass:
    40744 Da
    Quaternary structure:
    • Interacts with GRIA2 and GRIP1 in an ATP-dependent manner. ATAD1-catalyzed ATP hydrolysis disrupts not only its binding to GRIA2 and GRIP1, but also interaction between GRIP1 and GRIA2, leading to AMPAR complex disassembly (By similarity).

    Alternative splice isoforms for ATAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATAD1 Gene

Post-translational modifications for ATAD1 Gene

  • Ubiquitination at Lys263 and Lys274
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATAD1 Gene

Domains & Families for ATAD1 Gene

Gene Families for ATAD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ATAD1 Gene

InterPro:
Blocks:
  • AAA-protein subdomain
ProtoNet:

Suggested Antigen Peptide Sequences for ATAD1 Gene

GenScript: Design optimal peptide antigens:
  • ATPase family AAA domain-containing protein 1 (ATAD1_HUMAN)
  • cDNA FLJ54240, highly similar to ATPase family AAA domain-containing protein 1 (B4E2J1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBU5

UniProtKB/Swiss-Prot:

ATAD1_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with ATAD1: view

Function for ATAD1 Gene

Molecular function for ATAD1 Gene

UniProtKB/Swiss-Prot Function:
ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.1.3;.

Enzyme Numbers (IUBMB) for ATAD1 Gene

Phenotypes From GWAS Catalog for ATAD1 Gene

Gene Ontology (GO) - Molecular Function for ATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity ISS --
genes like me logo Genes that share ontologies with ATAD1: view
genes like me logo Genes that share phenotypes with ATAD1: view

Human Phenotype Ontology for ATAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATAD1 Gene

MGI Knock Outs for ATAD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATAD1

No data available for Transcription Factor Targets and HOMER Transcription for ATAD1 Gene

Localization for ATAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATAD1 Gene

Peroxisome. Cell junction, synapse, postsynaptic cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATAD1 gene
Compartment Confidence
plasma membrane 4
peroxisome 4
mitochondrion 3
cytosol 3
nucleus 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA --
GO:0005778 peroxisomal membrane HDA 21525035
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with ATAD1: view

Pathways & Interactions for ATAD1 Gene

PathCards logo

SuperPathways for ATAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002092 positive regulation of receptor internalization ISS --
GO:0007612 learning ISS --
GO:0007613 memory ISS --
GO:0051967 negative regulation of synaptic transmission, glutamatergic ISS --
GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization IEA --
genes like me logo Genes that share ontologies with ATAD1: view

No data available for Pathways by source and SIGNOR curated interactions for ATAD1 Gene

Drugs & Compounds for ATAD1 Gene

(3) Drugs for ATAD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for ATAD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with ATAD1: view

Transcripts for ATAD1 Gene

mRNA/cDNA for ATAD1 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATAD1

Alternative Splicing Database (ASD) splice patterns (SP) for ATAD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for ATAD1 Gene

GeneLoc Exon Structure for
ATAD1

Expression for ATAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for ATAD1 Gene

This gene is overexpressed in Nasal epithelium (24.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATAD1 Gene



Protein tissue co-expression partners for ATAD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATAD1

SOURCE GeneReport for Unigene cluster for ATAD1 Gene:

Hs.435948

Evidence on tissue expression from TISSUES for ATAD1 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Lung(4.2)
  • Bone(4)
  • Heart(2)
genes like me logo Genes that share expression patterns with ATAD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATAD1 Gene

Orthologs for ATAD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATAD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATAD1 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATAD1 30 31
  • 95.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATAD1 30 31
  • 93.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atad1 30 17 31
  • 92.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atad1 30
  • 91.87 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ATAD1 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATAD1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATAD1 30 31
  • 83.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATAD1 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atad1 30
  • 76.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii atad1b 30 31
  • 74.14 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta nmd 30 31
  • 57.74 (n)
OneToMany
CG4701 31
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009625 30
  • 57.54 (n)
Worm
(Caenorhabditis elegans)
Secernentea mspn-1 31
  • 50 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06094g 30
  • 56.45 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSP1 30 31 33 33
  • 53.74 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR036W 30
  • 51.15 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G27680 30
  • 53.33 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0714500 30
  • 49.19 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07988 30
  • 54.3 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC24B10.10c 30
  • 52.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11054 31
  • 48 (a)
OneToOne
Species where no ortholog for ATAD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATAD1 Gene

ENSEMBL:
Gene Tree for ATAD1 (if available)
TreeFam:
Gene Tree for ATAD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATAD1: view image

Paralogs for ATAD1 Gene

(12) SIMAP similar genes for ATAD1 Gene using alignment to 2 proteins:

  • ATAD1_HUMAN
  • B4E2J1_HUMAN

Pseudogenes.org Pseudogenes for ATAD1 Gene

genes like me logo Genes that share paralogs with ATAD1: view

Variants for ATAD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATAD1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs1554874859 Pathogenic: HYPEREKPLEXIA 4 87,767,678(-) C/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs1554884979 Uncertain Significance: HYPEREKPLEXIA 4. Hyperekplexia 4 (HKPX4) [MIM:618011] 87,814,438(-) C/Gp.Gln54His MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs751499706 Pathogenic: HYPEREKPLEXIA 4 87,754,701(-) CAT/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
VAR_035903 A colorectal cancer sample p.Val107Ile

Additional dbSNP identifiers (rs#s) for ATAD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATAD1 Gene

Variant ID Type Subtype PubMed ID
esv1509111 CNV deletion 17803354
esv2254676 CNV deletion 18987734
esv3546636 CNV deletion 23714750
nsv1041462 CNV gain 25217958
nsv1137945 CNV deletion 24896259
nsv518233 CNV loss 19592680
nsv950989 CNV duplication 24416366
nsv975800 CNV duplication 23825009

Variation tolerance for ATAD1 Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATAD1 Gene

Human Gene Mutation Database (HGMD)
ATAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATAD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATAD1 Gene

Disorders for ATAD1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ATAD1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ATAD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATAD1_HUMAN
  • Hyperekplexia 4 (HKPX4) [MIM:618011]: An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life. {ECO:0000269 PubMed:28180185, ECO:0000269 PubMed:29390050, ECO:0000269 PubMed:29659736}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ATAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATAD1: view

No data available for Genatlas for ATAD1 Gene

Publications for ATAD1 Gene

  1. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. (PMID: 29390050) Piard J … Kutsche K (Brain : a journal of neurology 2018) 3 4
  2. Msp1/ATAD1 maintains mitochondrial function by facilitating the degradation of mislocalized tail-anchored proteins. (PMID: 24843043) Chen YC … Rutter J (The EMBO journal 2014) 2 3
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41

Products for ATAD1 Gene

  • Signalway Proteins for ATAD1

Sources for ATAD1 Gene